Mutagenetix > Incidental Mutation

Incidental Mutation 'R1499:Smarcc2'

168715

Institutional Source

Beutler Lab

Gene Symbol

Smarcc2

Ensembl Gene

ENSMUSG00000025369

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2

Synonyms

5930405J04Rik

MMRRC Submission

039550-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128295117-128326351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128299741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 135 (N135K)

Ref Sequence

ENSEMBL: ENSMUSP00000096734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000218228]

AlphaFold

Q6PDG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000026433
AA Change: N135K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: N135K

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	424	512	4.9e-38	PFAM
low complexity region	545	557	N/A	INTRINSIC
SANT	597	645	9.04e-12	SMART
low complexity region	768	816	N/A	INTRINSIC
low complexity region	861	879	N/A	INTRINSIC
coiled coil region	906	921	N/A	INTRINSIC
low complexity region	948	982	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1012	1062	N/A	INTRINSIC
low complexity region	1074	1098	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099131
AA Change: N135K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: N135K

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	424	512	3.9e-38	PFAM
SANT	628	676	9.04e-12	SMART
low complexity region	799	847	N/A	INTRINSIC
low complexity region	892	910	N/A	INTRINSIC
coiled coil region	937	952	N/A	INTRINSIC
low complexity region	979	1013	N/A	INTRINSIC
low complexity region	1016	1041	N/A	INTRINSIC
low complexity region	1043	1093	N/A	INTRINSIC
low complexity region	1105	1129	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105235
AA Change: N135K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: N135K

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	426	512	4.5e-35	PFAM
low complexity region	545	557	N/A	INTRINSIC
SANT	597	645	9.04e-12	SMART
Pfam:SWIRM-assoc_3	684	750	4.1e-34	PFAM
low complexity region	768	816	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	863	946	1.5e-34	PFAM
low complexity region	948	982	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1012	1062	N/A	INTRINSIC
low complexity region	1077	1093	N/A	INTRINSIC
low complexity region	1108	1123	N/A	INTRINSIC
low complexity region	1153	1177	N/A	INTRINSIC
low complexity region	1184	1212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220384

Meta Mutation Damage Score

0.1353

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight increase in embryo weight at E13.5 and die shortly after birth (P0-P3). Mice homozygous for a conditional allele activated in the brain exhibit reduced cerebral cortical size and thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,458 (GRCm39)	Y763F	probably benign	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Actl11	A	G	9: 107,808,682 (GRCm39)	T1002A	probably damaging	Het
Ampd1	T	A	3: 102,998,980 (GRCm39)	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,587 (GRCm39)		probably benign	Het
Arhgap6	C	A	X: 167,579,499 (GRCm39)	P95T	possibly damaging	Het
Atg14	T	C	14: 47,798,102 (GRCm39)	N87S	probably benign	Het
Atp9b	C	T	18: 80,805,353 (GRCm39)	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,822,122 (GRCm39)	T110S	probably benign	Het
Birc6	T	G	17: 74,919,314 (GRCm39)	L221R	probably damaging	Het
Ces1c	A	G	8: 93,854,233 (GRCm39)	F101L	probably benign	Het
Cfap91	A	G	16: 38,141,762 (GRCm39)	V390A	probably damaging	Het
Chsy1	T	C	7: 65,821,750 (GRCm39)	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,557,900 (GRCm39)	F176I	probably benign	Het
Col5a2	A	G	1: 45,450,626 (GRCm39)	S374P	probably benign	Het
Col6a2	A	T	10: 76,439,544 (GRCm39)	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336 (GRCm39)	I401K	probably damaging	Het
Cspp1	T	A	1: 10,159,191 (GRCm39)		probably null	Het
Ddn	G	A	15: 98,704,647 (GRCm39)	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799 (GRCm39)		probably benign	Het
Dync2li1	T	C	17: 84,954,667 (GRCm39)		probably benign	Het
Eif2a	T	A	3: 58,445,005 (GRCm39)	L50*	probably null	Het
Elavl3	G	A	9: 21,929,875 (GRCm39)	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,538,982 (GRCm39)		probably null	Het
Fgf8	C	A	19: 45,730,786 (GRCm39)	V80F	possibly damaging	Het
Fras1	A	T	5: 96,891,046 (GRCm39)	E2858D	probably benign	Het
Fshr	A	T	17: 89,293,529 (GRCm39)	L383Q	probably damaging	Het
Glb1	A	G	9: 114,246,171 (GRCm39)	K74R	probably benign	Het
Gmeb2	T	G	2: 180,897,019 (GRCm39)	M290L	probably benign	Het
Gnptg	A	G	17: 25,454,828 (GRCm39)		probably null	Het
Grik2	A	C	10: 49,008,871 (GRCm39)	S739A	probably damaging	Het
Grk2	T	A	19: 4,337,222 (GRCm39)	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,491,473 (GRCm39)	V210A	probably damaging	Het
Hyal1	C	T	9: 107,455,091 (GRCm39)	L134F	probably damaging	Het
Itgb2	A	T	10: 77,381,987 (GRCm39)	K18N	possibly damaging	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,137,796 (GRCm39)	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,309,203 (GRCm39)	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,707,025 (GRCm39)	Y981C	probably damaging	Het
Klk1b26	C	A	7: 43,665,810 (GRCm39)	D207E	probably benign	Het
Kmt2a	G	T	9: 44,759,563 (GRCm39)	T762N	probably benign	Het
Kmt2d	A	G	15: 98,742,819 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,964,876 (GRCm39)	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,626,276 (GRCm39)	C127S	unknown	Het
Map7d1	A	G	4: 126,128,558 (GRCm39)		probably null	Het
Ninl	T	C	2: 150,822,096 (GRCm39)	D2G	possibly damaging	Het
Or2w1b	T	A	13: 21,300,303 (GRCm39)	M147K	probably benign	Het
Or5k3	A	G	16: 58,969,287 (GRCm39)	T25A	probably benign	Het
Or5m11b	C	T	2: 85,806,372 (GRCm39)	P262S	possibly damaging	Het
Or6n1	T	A	1: 173,916,813 (GRCm39)	L69*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pax8	A	G	2: 24,319,608 (GRCm39)	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,314,408 (GRCm39)	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,452,340 (GRCm39)	F40Y	probably benign	Het
Phrf1	G	T	7: 140,836,564 (GRCm39)	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,890,538 (GRCm39)		probably benign	Het
Prss59	A	T	6: 40,898,652 (GRCm39)	S199T	probably benign	Het
Pum1	T	C	4: 130,446,567 (GRCm39)	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,689,337 (GRCm39)	F220L	probably benign	Het
Rgs9	A	G	11: 109,159,747 (GRCm39)		probably null	Het
Rin3	A	G	12: 102,335,018 (GRCm39)	T230A	unknown	Het
Ros1	A	T	10: 51,974,773 (GRCm39)	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528 (GRCm38)	M151V	probably benign	Het
Sacs	T	A	14: 61,451,153 (GRCm39)	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,361,437 (GRCm39)	V148I	probably benign	Het
Slc13a5	A	G	11: 72,141,557 (GRCm39)	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,453,733 (GRCm39)		probably null	Het
Snx15	G	C	19: 6,172,094 (GRCm39)	S116R	probably damaging	Het
Stag1	A	G	9: 100,737,885 (GRCm39)	E414G	possibly damaging	Het
Stag1	A	T	9: 100,769,426 (GRCm39)		probably benign	Het
Tmem106a	T	A	11: 101,481,263 (GRCm39)	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,882,991 (GRCm39)	D1968N	probably benign	Het
Trim42	A	G	9: 97,248,138 (GRCm39)	L186P	possibly damaging	Het
Tshb	T	A	3: 102,685,624 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,584,484 (GRCm39)	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,239,506 (GRCm39)	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228 (GRCm39)	T113I	probably damaging	Het
Vps13c	A	G	9: 67,864,787 (GRCm39)	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,493,729 (GRCm39)		probably benign	Het
Zc3h7a	G	A	16: 10,980,520 (GRCm39)	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046 (GRCm39)	S1191P	probably damaging	Het

Other mutations in Smarcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Smarcc2	APN	10	128,298,924 (GRCm39)	missense	probably damaging	0.97
IGL01450:Smarcc2	APN	10	128,305,189 (GRCm39)	missense	probably damaging	1.00
IGL01638:Smarcc2	APN	10	128,323,943 (GRCm39)	unclassified	probably benign
IGL01663:Smarcc2	APN	10	128,324,846 (GRCm39)	unclassified	probably benign
IGL02308:Smarcc2	APN	10	128,318,641 (GRCm39)	missense	probably damaging	1.00
IGL02511:Smarcc2	APN	10	128,297,251 (GRCm39)	missense	probably damaging	1.00
IGL02633:Smarcc2	APN	10	128,305,556 (GRCm39)	missense	probably damaging	1.00
IGL03375:Smarcc2	APN	10	128,318,781 (GRCm39)	missense	probably damaging	0.99
IGL03493:Smarcc2	APN	10	128,297,226 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Smarcc2	UTSW	10	128,298,893 (GRCm39)	missense	probably damaging	1.00
R0220:Smarcc2	UTSW	10	128,319,505 (GRCm39)	missense	probably benign	0.32
R0281:Smarcc2	UTSW	10	128,310,591 (GRCm39)	missense	probably benign	0.20
R1299:Smarcc2	UTSW	10	128,297,247 (GRCm39)	missense	probably damaging	1.00
R1447:Smarcc2	UTSW	10	128,305,660 (GRCm39)	critical splice donor site	probably null
R1466:Smarcc2	UTSW	10	128,310,114 (GRCm39)	missense	probably damaging	0.98
R1466:Smarcc2	UTSW	10	128,310,114 (GRCm39)	missense	probably damaging	0.98
R1498:Smarcc2	UTSW	10	128,318,061 (GRCm39)	missense	probably benign	0.02
R1616:Smarcc2	UTSW	10	128,318,662 (GRCm39)	missense	probably damaging	1.00
R1718:Smarcc2	UTSW	10	128,304,867 (GRCm39)	intron	probably benign
R1767:Smarcc2	UTSW	10	128,304,951 (GRCm39)	missense	possibly damaging	0.92
R1792:Smarcc2	UTSW	10	128,299,740 (GRCm39)	missense	probably damaging	1.00
R1965:Smarcc2	UTSW	10	128,310,627 (GRCm39)	missense	probably damaging	1.00
R2229:Smarcc2	UTSW	10	128,324,210 (GRCm39)	unclassified	probably benign
R2286:Smarcc2	UTSW	10	128,299,612 (GRCm39)	missense	possibly damaging	0.58
R2367:Smarcc2	UTSW	10	128,318,036 (GRCm39)	missense	possibly damaging	0.86
R2398:Smarcc2	UTSW	10	128,305,551 (GRCm39)	missense	possibly damaging	0.92
R3084:Smarcc2	UTSW	10	128,324,028 (GRCm39)	unclassified	probably benign
R3085:Smarcc2	UTSW	10	128,324,028 (GRCm39)	unclassified	probably benign
R3777:Smarcc2	UTSW	10	128,318,812 (GRCm39)	critical splice donor site	probably null
R4346:Smarcc2	UTSW	10	128,304,692 (GRCm39)	missense	probably benign	0.02
R4967:Smarcc2	UTSW	10	128,319,049 (GRCm39)	missense	probably damaging	0.99
R4992:Smarcc2	UTSW	10	128,310,579 (GRCm39)	missense	probably damaging	0.99
R5028:Smarcc2	UTSW	10	128,297,314 (GRCm39)	missense	probably damaging	0.99
R5071:Smarcc2	UTSW	10	128,299,809 (GRCm39)	missense	probably damaging	1.00
R5095:Smarcc2	UTSW	10	128,305,169 (GRCm39)	missense	probably damaging	0.99
R5133:Smarcc2	UTSW	10	128,297,342 (GRCm39)	critical splice donor site	probably null
R5180:Smarcc2	UTSW	10	128,323,231 (GRCm39)	unclassified	probably benign
R5231:Smarcc2	UTSW	10	128,297,221 (GRCm39)	missense	probably damaging	1.00
R5240:Smarcc2	UTSW	10	128,316,875 (GRCm39)	critical splice donor site	probably null
R5401:Smarcc2	UTSW	10	128,301,373 (GRCm39)	missense	probably damaging	1.00
R5445:Smarcc2	UTSW	10	128,323,943 (GRCm39)	unclassified	probably benign
R5690:Smarcc2	UTSW	10	128,320,276 (GRCm39)	missense	probably damaging	1.00
R5694:Smarcc2	UTSW	10	128,319,996 (GRCm39)	missense	probably benign
R6240:Smarcc2	UTSW	10	128,323,893 (GRCm39)	unclassified	probably benign
R6545:Smarcc2	UTSW	10	128,319,997 (GRCm39)	missense	probably benign	0.00
R6713:Smarcc2	UTSW	10	128,323,638 (GRCm39)	splice site	probably null
R6934:Smarcc2	UTSW	10	128,305,541 (GRCm39)	missense	probably benign	0.27
R7016:Smarcc2	UTSW	10	128,321,198 (GRCm39)	splice site	probably null
R7149:Smarcc2	UTSW	10	128,318,598 (GRCm39)	missense	probably damaging	1.00
R7229:Smarcc2	UTSW	10	128,323,917 (GRCm39)	missense	unknown
R7395:Smarcc2	UTSW	10	128,321,475 (GRCm39)	missense	probably damaging	1.00
R7596:Smarcc2	UTSW	10	128,318,662 (GRCm39)	missense	probably damaging	1.00
R7722:Smarcc2	UTSW	10	128,317,597 (GRCm39)	missense	possibly damaging	0.72
R8407:Smarcc2	UTSW	10	128,318,190 (GRCm39)	missense	probably damaging	1.00
R8468:Smarcc2	UTSW	10	128,320,262 (GRCm39)	missense	probably benign	0.00
R8753:Smarcc2	UTSW	10	128,319,070 (GRCm39)	missense	probably damaging	1.00
R9023:Smarcc2	UTSW	10	128,301,093 (GRCm39)	missense	probably damaging	0.98
R9325:Smarcc2	UTSW	10	128,324,076 (GRCm39)	missense	unknown
R9327:Smarcc2	UTSW	10	128,321,486 (GRCm39)	missense	probably damaging	1.00
R9331:Smarcc2	UTSW	10	128,323,310 (GRCm39)	missense	unknown
R9686:Smarcc2	UTSW	10	128,316,775 (GRCm39)	missense	probably damaging	1.00
R9742:Smarcc2	UTSW	10	128,297,222 (GRCm39)	missense	probably damaging	1.00
Z1088:Smarcc2	UTSW	10	128,297,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGGCGTTACGATTTCCAGAATCC -3'
(R):5'- TCTCTATCACCCAGGTCAAAGCAGG -3'

Sequencing Primer
(F):5'- GTTACGATTTCCAGAATCCATCACG -3'
(R):5'- GCTGCTCAAAGACTTAACTCTC -3'

Posted On

2014-04-13